Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis III-AA Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE
MPS III BThis is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144 weeks) of treatment with AX 250 administered by ICV infusion every other week. Subjects will be evaluated for neurocognitive function, communication, adaptive behavior, quality of life, imaging characteristics and biochemical markers of disease burden. Safety will be assessed by adverse events, clinical labs, and physical exams.
A Treatment Extension Study of Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIBMPS III BThe primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250 treatment on cognitive function in patients with MPS IIIB as assessed by developmental quotient (DQ).
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis...
Mucopolysaccharidosis Type IIIAPatients with MPS IIIA have a clinical disorder marked by severe and progressive brain disease and neurological symptoms due to the accumulation of undigested glycosaminoglycans in all cells of the body. This study will be the first in human clinical trial to explore the safety, tolerability and clinical efficacy of ex vivo gene therapy (autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene) in MPSIIIA patients. Following treatment with the gene therapy patients will be followed up for a minimum of 3 years.
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIASanfilippo Syndrome2 moreThe main objective of this study is to evaluate the efficacy and safety of ABO-102 for the treatment of MPS IIIA.
A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102
Mucopolysaccharidosis III-AThe main objective of this study is to evaluate the long-term safety and tolerability of ABO-102 in participants with MPS IIIA.
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS...
Mucopolysaccharidosis III-AThis protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. The study will have a screening process and 7 study visits, e.g. home visits, that will consist of serum collection and completion of a remote assessment of the Vineland Adaptive Behavior Scales 3rd Edition (Vineland-3) MPS IIIA remains a devastating disease with a high unmet medical need. There is currently a limited number of available data to adequately characterize the progression of the disease. Analysis of blood biospecimens and adaptive behavior in this study will help researchers better understand the clinical progression of MPS IIIA. A better understanding of disease progression may assist in developing novel therapies for rare genetic disorders.
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis15 moreScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo Syndrome Type DSanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type D and may serve as an external control since there are very few patients with Sanfilippo syndrome type D.
MPS (RaDiCo Cohort) (RaDiCo-MPS)
Mucopolysaccharidosis IMucopolysaccharidosis II6 moreThe goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.